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Geleophysic dysplasia 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.
Uniprot Description An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.
Mondo Term and Equivalent IDs
MONDO:0013612:  Geleophysic dysplasia 2
DOID:0111726: 
UMLS:C3280054: